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The nature of mutation: a legacy of bacterial genetics. 突变的本质:细菌遗传的遗产。
IF 5.1 3区 生物学
Genetics Pub Date : 2025-08-19 DOI: 10.1093/genetics/iyaf144
Susan T Lovett, Thalia H Sass
{"title":"The nature of mutation: a legacy of bacterial genetics.","authors":"Susan T Lovett, Thalia H Sass","doi":"10.1093/genetics/iyaf144","DOIUrl":"10.1093/genetics/iyaf144","url":null,"abstract":"<p><p>A central question in the fields of genetics and evolution was the nature and origin of spontaneous mutation. Bacterial genetic experiments throughout the middle of the 20th century were key to understanding how genomes change and what cellular mechanisms act to limit such change. These mechanisms are shared among all life on the planet and have implications for human diseases and aging. The purpose of this review is to highlight genetic breakthroughs during this period using bacterial systems and how they have led to our understanding of genetic change. Many students of cancer genetics in humans are likely unaware of the foundational role of bacterial genetics in our understanding of spontaneous mutation and cellular avoidance mechanisms that impact cancer progression. This article attempts to provide an overview of critical experiments and hypotheses.</p>","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Harnessing cytonuclear diversity to map barley spike traits using the Cytonuclear Multi-Parent Population. 利用细胞核多亲本群体利用细胞核多样性绘制大麦穗性状。
IF 5.1 3区 生物学
Genetics Pub Date : 2025-08-19 DOI: 10.1093/genetics/iyaf167
Schewach Bodenheimer, Eyal Bdolach, Avital Be'ery, Lalit Dev Tiwari, Ruth Sarahi Perez-Alfaro, Shengming Yang, Daniel Koenig, Eyal Fridman
{"title":"Harnessing cytonuclear diversity to map barley spike traits using the Cytonuclear Multi-Parent Population.","authors":"Schewach Bodenheimer, Eyal Bdolach, Avital Be'ery, Lalit Dev Tiwari, Ruth Sarahi Perez-Alfaro, Shengming Yang, Daniel Koenig, Eyal Fridman","doi":"10.1093/genetics/iyaf167","DOIUrl":"10.1093/genetics/iyaf167","url":null,"abstract":"<p><p>The interplay between nuclear and cytoplasmic genomes, collectively known as cytonuclear interactions (CNIs), is increasingly recognized as a key driver of phenotypic variation and adaptive potential across diverse organisms. Yet, leveraging cytoplasmic diversity and fully understanding the role of CNIs in agriculturally important traits remain major challenges in crop improvement. Here, we present the Cytonuclear Multi-Parent Population (CMPP), a novel interspecific resource comprising 951 doubled haploid lines, generated from two backcrosses between ten genetically diverse wild barley accessions (Hordeum vulgare ssp. spontaneum) used as female founders and the elite cultivar Noga (H. vulgare). Phenotyping across multiple environments revealed that up to 5% of variation in key spike and grain trait values are explained by cytoplasm (η² = 0.05). Notably, wild cytoplasms influenced trait stability, with the B1K-50-04 cytoplasm increasing grain weight stability based on Shukla's measure. Genome-wide association studies employing Nested Association Mapping (NAM), FASTmrMLM, and MatrixEpistasis (ME) identified 76 marker-trait associations (MTAs). The ME approach specifically uncovered 16 cytonuclear QTL (cnQTL) exhibiting cytoplasm-dependent effects. Furthermore, we developed a genomic prediction strategy incorporating interactions between significant MTAs and population structure variables (subfamily and cytoplasm), which achieved cross-validation accuracies comparable to, or even exceeding, models using the full set of 6,679 SNPs, despite utilizing substantially fewer predictors, enabling quicker and more efficient validation runs. The CMPP provides a unique platform for dissecting cytoplasmic effects and CNIs, highlighting the importance of incorporating cytonuclear context in genetic mapping and prediction to effectively harness both nuclear and cytoplasmic diversity for crop improvement.</p>","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144884144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nonequivalence of Zfp423 premature termination codons in mice. 小鼠Zfp423过早终止密码子的不等效性。
IF 5.1 3区 生物学
Genetics Pub Date : 2025-08-18 DOI: 10.1093/genetics/iyaf164
Dorothy Concepcion, Catherine Liang, Daniel Kim, Bruce A Hamilton
{"title":"Nonequivalence of Zfp423 premature termination codons in mice.","authors":"Dorothy Concepcion, Catherine Liang, Daniel Kim, Bruce A Hamilton","doi":"10.1093/genetics/iyaf164","DOIUrl":"10.1093/genetics/iyaf164","url":null,"abstract":"<p><p>Genetic variants that introduce a premature termination codon (PTC) are often assumed equivalent and functionally null. Exceptions depend on the specific architectures of the affected mRNA and protein. Here we address phenotypic differences among early truncating variants of mouse Zfp423, whose phenotypes resemble Joubert Syndrome and Related Disorders (JSRD). We replicate quantitative differences previously seen between presumptive null PTC variants based on their position in the coding sequence. We show with reciprocal congenic strains that large phenotype differences between two PTC variants with the same predicted stop and reinitiation codons is due to the specific allele rather than different strain backgrounds, with no evidence for induced exon skipping. Differences in RNA structure, however, could influence translation rate across the affected exon. Using a reporter assay, we find differences in translational reinitiation between two deletion variants that correlate with predicted RNA structure rather than distance from the canonical initiation codon. These results confirm and extend earlier evidence for differences among Zfp423 PTC variants, identify parameters for translational reinitiation after an early termination codon, and reinforce caution in the null interpretation of early PTC variants.</p>","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Environmental NaCl affects Caenorhabditis elegans development and aging. 环境NaCl对秀丽隐杆线虫发育和衰老的影响。
IF 5.1 3区 生物学
Genetics Pub Date : 2025-08-18 DOI: 10.1093/genetics/iyaf139
Franziska Pohl, Brian M Egan, Daniel L Schneider, Matthew C Mosley, Micklaus A Garcia, Sydney Hou, Chen-Hao Chiu, Kerry Kornfeld
{"title":"Environmental NaCl affects Caenorhabditis elegans development and aging.","authors":"Franziska Pohl, Brian M Egan, Daniel L Schneider, Matthew C Mosley, Micklaus A Garcia, Sydney Hou, Chen-Hao Chiu, Kerry Kornfeld","doi":"10.1093/genetics/iyaf139","DOIUrl":"10.1093/genetics/iyaf139","url":null,"abstract":"<p><p>Sodium chloride (NaCl) is an essential nutrient, but it is toxic in excess. In humans, excessive dietary NaCl can cause high blood pressure, which contributes to age-related diseases, including stroke and heart disease. We used Caenorhabditis elegans to elucidate how NaCl levels influence animal aging. Most experiments on this animal are conducted in standard culture conditions: Nematode Growth Medium (NGM) agar with a lawn of E. coli. Here, we report that the supplemental NaCl in standard NGM, ∼50 mM, accelerates aging and decreases lifespan. For comparison, we prepared NGM with reduced NaCl or excess NaCl. Considering reduced NaCl as a baseline, wild-type worms on standard NGM displayed normal development and fertility but reduced lifespan and health span, indicating toxicity in old animals. The long-lived mutants daf-2, age-1, and nuo-6, cultured on standard NGM, also displayed reduced lifespan. Thus, NaCl in standard NGM accelerates aging in multiple genetic backgrounds. Wild-type worms on excess NaCl displayed delayed development and reduced fertility, and reduced lifespan and health span, indicating toxicity in both young and old animals. These results suggest that young animals are relatively resistant to NaCl toxicity, but that aging causes progressive sensitivity, such that old animals display toxicity to both standard and excess NaCl. We investigated pathways that respond to NaCl. Young animals cultured with excess NaCl activated gpdh-1, a specific response to NaCl stress. Old animals cultured with excess NaCl activated gpdh-1 and hsp-6, a reporter for the mitochondrial unfolded protein response. Thus, excess NaCl activates multiple stress response pathways in older animals.</p>","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dark side of the honeymoon: reconstructing the Asian x European rose breeding history through the lens of genomics. 蜜月的阴暗面:通过基因组学的镜头重建亚洲和欧洲的玫瑰育种历史。
IF 5.1 3区 生物学
Genetics Pub Date : 2025-08-12 DOI: 10.1093/genetics/iyaf163
Thibault Leroy, Elise Albert, Tatiana Thouroude, Sylvie Baudino, Jean-Claude Caissard, Annie Chastellier, Jérôme Chameau, Julien Jeauffre, Thérèse Loubert, Saretta Nindya Paramita, Alix Pernet, Vanessa Soufflet-Freslon, Cristiana Oghina-Pavie, Fabrice Foucher, Laurence Hibrand-Saint Oyant, Jérémy Clotault
{"title":"Dark side of the honeymoon: reconstructing the Asian x European rose breeding history through the lens of genomics.","authors":"Thibault Leroy, Elise Albert, Tatiana Thouroude, Sylvie Baudino, Jean-Claude Caissard, Annie Chastellier, Jérôme Chameau, Julien Jeauffre, Thérèse Loubert, Saretta Nindya Paramita, Alix Pernet, Vanessa Soufflet-Freslon, Cristiana Oghina-Pavie, Fabrice Foucher, Laurence Hibrand-Saint Oyant, Jérémy Clotault","doi":"10.1093/genetics/iyaf163","DOIUrl":"https://doi.org/10.1093/genetics/iyaf163","url":null,"abstract":"<p><p>Roses hold significant symbolic value in Western cultural heritage, often serving as a symbol of love and romance. Despite their ancient cultivation, the appreciation for the phenotypic diversity of roses emerged relatively recently, notably during the 19th century. This period is characterized by a remarkable expansion in the number of varieties, from around 100 to over 8,000, representing a golden age for roses. To trace the history of rose breeding in Europe and unveil genetic changes during this period, we gathered phenotypic and genetic data from 204 accessions. These included botanical roses and varieties cultivated between 1800 and 1910. Whole-genome sequences from 32 accessions were also included. Our analysis revealed a temporal shift in the genetic makeup, transitioning from a historical European to a near-Asian genetic background within a few generations. This shift was accompanied by a notable reduction in genetic diversity, attributed to the backcrossing with the less diverse Asian genepool, plus some genomic signatures of selection. We have generated the largest GWAS catalog for rose to date, offering a valuable resource for future breeding initiatives. We emphasize the critical importance of preserving ancient rose collections to safeguard diversity and ensure a sustainable breeding for the long term.</p>","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144838347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Echoes of eugenics: confronting its effects in indigenous genomics. 优生学的回响:面对其在本土基因组学中的影响。
IF 5.1 3区 生物学
Genetics Pub Date : 2025-08-11 DOI: 10.1093/genetics/iyaf127
Carissa A Sherman, Shirin Nataneli, Katrina G Claw, Jazlyn A Mooney
{"title":"Echoes of eugenics: confronting its effects in indigenous genomics.","authors":"Carissa A Sherman, Shirin Nataneli, Katrina G Claw, Jazlyn A Mooney","doi":"10.1093/genetics/iyaf127","DOIUrl":"https://doi.org/10.1093/genetics/iyaf127","url":null,"abstract":"<p><p>In this perspective piece, we review the history of eugenics and its impacts on Indigenous peoples of North America. The perspective outlines historical policies, such as forced sterilization and immigration efforts targeting Indigenous populations. We explore how science is intertwined with eugenics and how eugenic ideologies continue to negatively impact Indigenous communities and science today. The work investigates the legacy of eugenics in shaping genetic studies, including genetic counseling and large-scale initiatives like the Human Genome Diversity Project. Additionally, we consider how institutions and biomedical research settings have committed inexcusable and unethical science that contributed to Indigenous peoples' attitudes toward genetic and biomedical research. The work addresses the challenges genetic testing, including direct-to-consumer testing, poses to Indigenous people's identities, culture, and sovereignty. Acknowledging this devastating history is essential to understanding its continued impact on Indigenous communities today. We conclude by highlighting ongoing efforts and strategies to effectively engage with Indigenous peoples in genetic research, emphasizing the responsibilities of modern researchers to build trust, ensure ethical practices, and contribute to inclusive and respectful science.</p>","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144838349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mediated pleiotropy drives the negative correlation of total carotenoid and dry matter contents in cassava (Manihot esculenta). 介导的多效性驱动木薯总类胡萝卜素和干物质含量的负相关。
IF 5.1 3区 生物学
Genetics Pub Date : 2025-08-11 DOI: 10.1093/genetics/iyaf162
Seren S Villwock, Elizabeth Y Parkes, Edwige Gaby Nkouaya Mbanjo, Ismail Y Rabbi, Jean-Luc Jannink
{"title":"Mediated pleiotropy drives the negative correlation of total carotenoid and dry matter contents in cassava (Manihot esculenta).","authors":"Seren S Villwock, Elizabeth Y Parkes, Edwige Gaby Nkouaya Mbanjo, Ismail Y Rabbi, Jean-Luc Jannink","doi":"10.1093/genetics/iyaf162","DOIUrl":"https://doi.org/10.1093/genetics/iyaf162","url":null,"abstract":"<p><p>Plant breeders aim to increase provitamin A carotenoids in cassava (Manihot esculenta) storage roots to help combat vitamin A deficiency in sub-Saharan Africa, but a negative genetic correlation between total carotenoid (TC) and dry matter (DM) contents hinders progress. While genetic linkage between a major-effect variant in the phytoene synthase 2 (PSY2) gene and nearby candidate gene(s) has been thought to drive this correlation, molecular evidence suggests there may be a metabolic relationship between TC and DM, implying genome-wide pleiotropic effects. Bivariate genome-wide associations were used to examine the genetic architecture of the negative covariance between traits and test for pleiotropy. A population of 378 accessions in the yellow-fleshed cassava breeding program at the International Institute of Tropical Agriculture (IITA) in Ibadan, Nigeria was genotyped with DArTseqLD and phenotyped in field trials over ten years across three locations in Nigeria. Mixed linear models controlling for the previously-identified PSY2 causal variant were used to identify multiple new pleiotropic loci. Among 17 jointly-associated loci at a relaxed significance threshold, most (11 of 17) affected TC and DM in opposite directions, although this pattern did not reach statistical significance in a binomial test. Even after accounting for these 17 loci as covariates, significantly negative polygenic covariance between TC and DM remained. These findings support the hypothesis that widespread mediated pleiotropy rather than genetic linkage drives the negative genetic correlation between TC and DM in cassava and demonstrate a new application of multivariate GWAS for interrogating the genetic architecture of correlated traits.</p>","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144838352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transcriptional control of C. elegans male tail tip morphogenesis by DMD-3. DMD-3对线虫雄性尾尖形态发生的转录调控。
IF 5.1 3区 生物学
Genetics Pub Date : 2025-08-09 DOI: 10.1093/genetics/iyaf161
Porfirio Fernandez, Sevinç Ercan, Karin C Kiontke, David H A Fitch
{"title":"Transcriptional control of C. elegans male tail tip morphogenesis by DMD-3.","authors":"Porfirio Fernandez, Sevinç Ercan, Karin C Kiontke, David H A Fitch","doi":"10.1093/genetics/iyaf161","DOIUrl":"https://doi.org/10.1093/genetics/iyaf161","url":null,"abstract":"<p><p>Sexually dimorphic morphogenesis is governed by DM-domain transcription factors (TFs) in many animals, but how this transcriptional control links to the morphogenetic mechanisms is insufficiently known. The DM-domain TF DMD-3 in Caenorhabditis elegans is the master regulator of a male-specific morphogenetic event that changes the shape of the tail tip from long and pointed in larvae to short and round in adults. This tail tip morphogenesis (TTM) involves cell-shape changes, cell migration and fusion. To understand how transcriptional regulation by DMD-3 governs TTM, we used male-specific ChIP-seq to identify its direct targets. We found 1,755 DMD-3-bound sites. We identify a DMD-3-associated binding motif and validate its function in TTM. This motif is similar to the binding motif of EOR-1, and eor-1 mutations affect TTM at a penetrance of 13%. This suggests that DMD-3 may act cooperatively with EOR-1 and possibly other TFs. DMD-3 targets 273 genes that play a role in TTM. These genes include other TFs as well as effectors and components of morphogenetic mechanisms. By deleting DMD-3-bound sites endogenously and observing changes in reporter expression and tail tip phenotypes, we identify tissue-specific enhancers in the cis-regulatory regions of fos-1, pan-1, nmy-2 and hmr-1 that play a role in TTM. For fos-1, we propose that a feed-forward loop is responsible for the tail-tip specific increase in gene-expression. Our study suggests that the gene regulatory network for TTM downstream of DMD-3 involves an unexpectedly large hierarchical cascade of TFs, but DMD-3 directly targets some non-TF genes as well.</p>","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144838357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multiple autism genes influence GABA neuron remodeling via distinct developmental trajectories. 多个自闭症基因通过不同的发育轨迹影响GABA神经元重塑。
IF 5.1 3区 生物学
Genetics Pub Date : 2025-08-09 DOI: 10.1093/genetics/iyaf156
Kristi Zoga, Sophia Villiere, Vina Tikiyani, Andrea F Edwards-Cintron, Pranav Thokachichu, Patrick Nicodemus, Pablo G Camara, Michael P Hart
{"title":"Multiple autism genes influence GABA neuron remodeling via distinct developmental trajectories.","authors":"Kristi Zoga, Sophia Villiere, Vina Tikiyani, Andrea F Edwards-Cintron, Pranav Thokachichu, Patrick Nicodemus, Pablo G Camara, Michael P Hart","doi":"10.1093/genetics/iyaf156","DOIUrl":"10.1093/genetics/iyaf156","url":null,"abstract":"<p><p>Variation in over 100 genes are now associated with increased risk for autism and related neurodevelopmental conditions, but how this variation results in distinct and overlapping behavioral changes is still not well understood. Recent efforts have focused on screening many autism genes at once for functional and phenotypic convergence, and identified subsets that are crucial for many early steps of neurodevelopment. Few studies have screened later steps of neurodevelopment, circuit function, circuit plasticity, or behaviors. We screened twenty conserved autism-associated genes for impact on experience-dependent neuron remodeling in C. elegans. Loss of unc-44/ANK2, set-4/KMT5B, daf-18/PTEN, gap-2/SYNGAP1, and chd-1/CHD8 increased, while unc-36/CACNA2D3 decreased, neurite outgrowth of the GABAergic DVB neuron in adults. Although daf-18/PTEN, set-4/KMT5B, and unc-44/ANK2 had convergent phenotypes, they arise from distinct temporal trajectories with differential impact on DVB pre-synaptic morphology. Screening for the DVB regulated spicule protraction behavior identified multiple autism genes involved, but only unc-44/ANK2 and unc-36/CACNA2D3 were shared between screens. Application of a metric geometry computational framework (CAJAL) to the DVB morphology dataset identified 5 additional genes that impact DVB morphology, including unc-2/CACNA1A and unc-10/RIMS1, which also significantly impacted behavior. This work defines new regulators and molecular mechanisms of experience-dependent neuron remodeling and circuit plasticity, and further links these processes with conserved autism genes. It also demonstrates the utility of using intact, behavior generating circuits in C. elegans, to screen for novel roles for conserved autism genes.</p>","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144838353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Role of Environmental Stress in Promoting Mutators Through Evolutionary Rescue: Quantitative Predictions. 通过进化救援,环境压力在促进突变体中的作用:定量预测。
IF 5.1 3区 生物学
Genetics Pub Date : 2025-08-07 DOI: 10.1093/genetics/iyaf157
Marwa Z Tuffaha, Lindi M Wahl
{"title":"The Role of Environmental Stress in Promoting Mutators Through Evolutionary Rescue: Quantitative Predictions.","authors":"Marwa Z Tuffaha, Lindi M Wahl","doi":"10.1093/genetics/iyaf157","DOIUrl":"https://doi.org/10.1093/genetics/iyaf157","url":null,"abstract":"<p><p>The role of mutation rate in evolutionary rescue has been extensively explored, but little work has investigated how evolutionary rescue can promote mutators, lineages with higher mutation rates. Under complete linkage, we investigate the likelihood of evolutionary rescue on a mutator background that either emerges de novo or pre-exists in the population prior to a severe environmental change. If such an evolutionary rescue event occurs, the mutator lineage sweeps into the population, and thus the environmental stress has promoted mutators. Our findings indicate that mutation rate evolution can substantially boost rescue probabilities, but stronger mutators are most effective when the wildtype has a low mutation rate, while their advantage diminishes for higher wildtype mutation rates. Interestingly, at intermediate wildtype mutation rates, emerging mutators can be almost equally likely to sweep no matter how slowly or quickly the environment changes. However, at low wildtype mutation rates, mutators are only likely to sweep for very slow environmental changes due to the sequential nature of necessary mutations for such sweeps to occur. Finally, we show that pre-existing mutators can be significantly more likely to rescue the population compared to the wildtype, provided the wildtype's mutation rate is relatively low. This research opens new avenues for investigating mutator dynamics in response to environmental stress.</p>","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144838356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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